Querter Ilya, Schuermans Nika, Van de Velde Nele, Geleyn Cisse, Dheedene Annelies, Audenaert Kurt, Baeken Chris, Callewaert Bert, Lemmens Gilbert
Department of Head and Skin - Psychiatry, Ghent University, Ghent, Belgium.
Department of Psychiatry, Ghent University Hospital, Ghent, Belgium.
Front Psychiatry. 2025 Jun 26;16:1607003. doi: 10.3389/fpsyt.2025.1607003. eCollection 2025.
Catatonia is a clinically significant syndrome with various etiologies, including genetic factors, that are increasingly recognized. We present a case of recurrent catatonia associated with 17p13.3 microduplication syndrome in a 47-year-old woman with a long-standing history of recurrent depressive episodes. At age 44, she experienced her first episode with psychotic and catatonic features, which required hospitalization. Over the next three years, she had four additional catatonic episodes. Four years after her initial presentation, she was diagnosed with 17p13.3 microduplication syndrome. This case emphasizes the importance of considering genetic testing for patients with recurrent catatonia, particularly those with a comorbid developmental disorder. Given the limited number of cases of 17p13.3 microduplication syndrome reported in the literature, we share these findings to encourage prompt genetic assessment in similar presentations. Clinicians treating patients with catatonia should recognize the prevalence of medical, and particularly genetic, disorders that increase susceptibility to catatonia. Conversely, clinicians working with patients who have genetically based neurodevelopmental syndromes should be aware of the challenges in diagnosing and treating catatonia. By identifying catatonia in this patient population, prompt and targeted interventions that may significantly reduce the disabling effects of catatonia can be initiated. This case also expands the known phenotypic spectrum of 17p13.3 microduplication syndrome and contributes to understanding the genetic factors involved in catatonia, though further research is needed to clarify this association.
紧张症是一种具有多种病因（包括遗传因素）的临床上具有重要意义的综合征，这些病因越来越受到认可。我们报告了一例47岁女性复发性紧张症，其与17p13.3微重复综合征相关，该女性有长期复发性抑郁发作病史。44岁时，她经历了首次伴有精神病性和紧张症特征的发作，需要住院治疗。在接下来的三年里，她又经历了四次紧张症发作。首次就诊四年后，她被诊断为17p13.3微重复综合征。该病例强调了对复发性紧张症患者，尤其是那些伴有共病发育障碍的患者进行基因检测的重要性。鉴于文献中报道的17p13.3微重复综合征病例数量有限，我们分享这些发现以鼓励对类似表现的患者进行及时的基因评估。治疗紧张症患者的临床医生应认识到增加紧张症易感性的医学疾病，尤其是遗传疾病的普遍性。相反，治疗患有基于基因的神经发育综合征患者的临床医生应意识到诊断和治疗紧张症的挑战。通过在这一患者群体中识别紧张症，可以启动可能显著降低紧张症致残效应的及时且有针对性的干预措施。该病例还扩展了已知的17p13.3微重复综合征的表型谱，并有助于理解紧张症所涉及的遗传因素，不过仍需要进一步研究来阐明这种关联。
